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Gene | ALK |
Variant | T1151dup |
Impact List | duplication |
Protein Effect | unknown |
Gene Variant Descriptions | ALK T1151dup indicates the insertion of the duplicate amino acid, threonine (T)-1151, in the protein kinase domain of the Alk protein (UniProt.org). T1151dup has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22277784, PMID: 20695522), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK T1151dup |
Transcript | NM_004304 |
gDNA | chr2:g.29222405_29222406insTGT |
cDNA | c.3453_3454insACA |
Protein | p.T1151dup |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29222405_29222406insTGT | c.3453_3454insACA | p.T1151dup | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK T1151dup | Advanced Solid Tumor | predicted - sensitive | TPX-0131 | Preclinical - Biochemical | Actionable | In a preclinical study, TPX-0131 inhibited kinase activity of ALK T1151dup in an in vitro assay (PMID: 34158340). | 34158340 |